Disease-gene associations mined from literature

Human genes for protein S deficiency

Protein S deficiency [DOID:2451]

Protein S deficiency is a disorder associated with increased risk of venous thrombosis. Protein S, a vitamin K-dependent physiological anticoagulant, acts as a nonenzymatic cofactor to activated protein C in the proteolytic degradation of factor Va and factor VIIIa. Decreased (antigen) levels or impaired function (activity) of protein S leads to decreased degradation of factor Va and factor VIIIa and an increased propensity to venous thrombosis. Protein S circulates in human plasma in two forms: approximately 60 percent is bound to complement component C4b β-chain while the remaining 40 percent is free. Only free protein S has activated protein C cofactor activity.

Synonyms:  protein S deficiency,  DOID:2451,  Protein S deficiency disease (disorder),  Protein S deficiency disease disorder,  Protein S deficiency disease

Linkouts:  OMIM #1 #2